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Protein

Centrosomal protein of 89 kDa

Gene

CEP89

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.2 Publications

GO - Biological processi

  • chemical synaptic transmission Source: InterPro
  • cilium assembly Source: UniProtKB
  • mitochondrion organization Source: InterPro
  • non-motile cilium assembly Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 89 kDa
Short name:
Cep89
Alternative name(s):
Centrosomal protein 123
Short name:
Cep123
Coiled-coil domain-containing protein 123
Gene namesi
Name:CEP89
Synonyms:CCDC123
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:25907. CEP89.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary transition fiber Source: GO_Central
  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • mitochondrial intermembrane space Source: UniProtKB-SubCell
  • motile cilium Source: Ensembl
  • non-motile cilium Source: GO_Central
  • plasma membrane Source: HPA
  • spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness.

Organism-specific databases

DisGeNETi84902.
MalaCardsiCEP89.
OpenTargetsiENSG00000121289.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
PharmGKBiPA147358250.

Polymorphism and mutation databases

BioMutaiCEP89.
DMDMi296439414.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002888091 – 783Centrosomal protein of 89 kDaAdd BLAST783

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei50PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96ST8.
MaxQBiQ96ST8.
PaxDbiQ96ST8.
PeptideAtlasiQ96ST8.
PRIDEiQ96ST8.

PTM databases

iPTMnetiQ96ST8.
PhosphoSitePlusiQ96ST8.

Expressioni

Gene expression databases

BgeeiENSG00000121289.
CleanExiHS_CCDC123.
ExpressionAtlasiQ96ST8. baseline and differential.
GenevisibleiQ96ST8. HS.

Organism-specific databases

HPAiHPA039382.
HPA040056.

Interactioni

Protein-protein interaction databases

BioGridi124342. 87 interactors.
DIPiDIP-47325N.
IntActiQ96ST8. 88 interactors.
STRINGi9606.ENSP00000306105.

Structurei

3D structure databases

ProteinModelPortaliQ96ST8.
SMRiQ96ST8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili234 – 333Sequence analysisAdd BLAST100
Coiled coili369 – 719Sequence analysisAdd BLAST351

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGSG. Eukaryota.
ENOG410ZNEI. LUCA.
GeneTreeiENSGT00390000018876.
HOGENOMiHOG000111383.
HOVERGENiHBG075238.
InParanoidiQ96ST8.
KOiK16543.
OMAiKGYKKQA.
OrthoDBiEOG091G036W.
PhylomeDBiQ96ST8.
TreeFamiTF329234.

Family and domain databases

InterProiIPR033545. CEP89.
[Graphical view]
PANTHERiPTHR36170. PTHR36170. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96ST8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLGFRRGRR SHFKHIIHGL LPAASVAPKA AVPRTPPPRS PNPSPERPRS
60 70 80 90 100
ALAAAILATT LTGRTVAIPQ PRQRSRSESD VSSVEQDSFI EPYATTSQLR
110 120 130 140 150
PRPNWQSEMG RRSSLPSFET LDYGDEEDIE TQLSSSGKEL GDVSAREDRG
160 170 180 190 200
GHSDDLYAVP HRNQVPLLHE VNSEDDENIS HQDGFPGSPP APQRTQQKDG
210 220 230 240 250
KHPVLNLKDE KPPLCEKPPP SPDITGRARQ RYTEITREKF EALKEENMDL
260 270 280 290 300
NNMNQSLTLE LNTMKQAMKE LQLKLKGMEK EKRKLKEAEK ASSQEVAAPE
310 320 330 340 350
LLYLRKQAQE LVDENDGLKM TVHRLNVELS RYQTKFRHLS KEESLNIEGL
360 370 380 390 400
PSKGPIPPWL LDIKYLSPLL LAYEDMMKEK DELNATLKEE MRMFRMRVQE
410 420 430 440 450
VVKENEELHQ ELNKSSAVTS EEWRQLQTQA KLVLEENKLL LEQLEIQQRK
460 470 480 490 500
AKDSHQERLQ EVSKLTKQLM LLEAKTHGQE KELAENREQL EILRAKCQEL
510 520 530 540 550
KTHSDGKIAV EVHKSIVNEL KSQLQKEEEK ERAEMEELME KLTVLQAQKK
560 570 580 590 600
SLLLEKNSLT EQNKALEAEL ERAQKINRKS QKKIEVLKKQ VEKAMGNEMS
610 620 630 640 650
AHQYLANLVG LAENITQERD SLMCLAKCLE SEKDGVLNKV IKSNIRLGKL
660 670 680 690 700
EEKVKGYKKQ AALKLGDISH RLLEQQEDFA GKTAQYRQEM RHLHQVLKDK
710 720 730 740 750
QEVLDQALQQ NREMEGELEV IWESTFRENR RIRELLQDTL TRTGVQDNPR
760 770 780
ALVAPSLNGV SQADLLDGCD VCSYDLKSHA PTC
Length:783
Mass (Da):89,590
Last modified:May 18, 2010 - v3
Checksum:i7EE45B222951CED0
GO
Isoform 2 (identifier: Q96ST8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.

Note: No experimental confirmation available.
Show »
Length:536
Mass (Da):62,126
Checksum:i3E3D037CC5C62FCF
GO
Isoform 3 (identifier: Q96ST8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-356: SLNIEGLPSKGPI → VTFPIVKISFSDF
     357-782: Missing.

Note: No experimental confirmation available.
Show »
Length:357
Mass (Da):40,338
Checksum:iB54BFDAC136EA215
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063122194R → W.Corresponds to variant rs3764633dbSNPEnsembl.1
Natural variantiVAR_063123398V → A.2 PublicationsCorresponds to variant rs4805825dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0391811 – 247Missing in isoform 2. 1 PublicationAdd BLAST247
Alternative sequenceiVSP_039182344 – 356SLNIE…SKGPI → VTFPIVKISFSDF in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_039183357 – 782Missing in isoform 3. 1 PublicationAdd BLAST426

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027546 mRNA. Translation: BAB55190.1.
AC008805 Genomic DNA. No translation available.
AC119048 Genomic DNA. No translation available.
AC011449 Genomic DNA. No translation available.
BC032307 mRNA. Translation: AAH32307.1.
BC136328 mRNA. Translation: AAI36329.1.
CCDSiCCDS32987.1. [Q96ST8-1]
RefSeqiNP_116205.3. NM_032816.4. [Q96ST8-1]
XP_011525727.1. XM_011527425.2. [Q96ST8-2]
UniGeneiHs.599703.

Genome annotation databases

EnsembliENST00000305768; ENSP00000306105; ENSG00000121289. [Q96ST8-1]
GeneIDi84902.
KEGGihsa:84902.
UCSCiuc002nty.4. human. [Q96ST8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027546 mRNA. Translation: BAB55190.1.
AC008805 Genomic DNA. No translation available.
AC119048 Genomic DNA. No translation available.
AC011449 Genomic DNA. No translation available.
BC032307 mRNA. Translation: AAH32307.1.
BC136328 mRNA. Translation: AAI36329.1.
CCDSiCCDS32987.1. [Q96ST8-1]
RefSeqiNP_116205.3. NM_032816.4. [Q96ST8-1]
XP_011525727.1. XM_011527425.2. [Q96ST8-2]
UniGeneiHs.599703.

3D structure databases

ProteinModelPortaliQ96ST8.
SMRiQ96ST8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124342. 87 interactors.
DIPiDIP-47325N.
IntActiQ96ST8. 88 interactors.
STRINGi9606.ENSP00000306105.

PTM databases

iPTMnetiQ96ST8.
PhosphoSitePlusiQ96ST8.

Polymorphism and mutation databases

BioMutaiCEP89.
DMDMi296439414.

Proteomic databases

EPDiQ96ST8.
MaxQBiQ96ST8.
PaxDbiQ96ST8.
PeptideAtlasiQ96ST8.
PRIDEiQ96ST8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305768; ENSP00000306105; ENSG00000121289. [Q96ST8-1]
GeneIDi84902.
KEGGihsa:84902.
UCSCiuc002nty.4. human. [Q96ST8-1]

Organism-specific databases

CTDi84902.
DisGeNETi84902.
GeneCardsiCEP89.
H-InvDBHIX0022917.
HGNCiHGNC:25907. CEP89.
HPAiHPA039382.
HPA040056.
MalaCardsiCEP89.
MIMi615470. gene.
neXtProtiNX_Q96ST8.
OpenTargetsiENSG00000121289.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
PharmGKBiPA147358250.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGSG. Eukaryota.
ENOG410ZNEI. LUCA.
GeneTreeiENSGT00390000018876.
HOGENOMiHOG000111383.
HOVERGENiHBG075238.
InParanoidiQ96ST8.
KOiK16543.
OMAiKGYKKQA.
OrthoDBiEOG091G036W.
PhylomeDBiQ96ST8.
TreeFamiTF329234.

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

GenomeRNAii84902.
PROiQ96ST8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121289.
CleanExiHS_CCDC123.
ExpressionAtlasiQ96ST8. baseline and differential.
GenevisibleiQ96ST8. HS.

Family and domain databases

InterProiIPR033545. CEP89.
[Graphical view]
PANTHERiPTHR36170. PTHR36170. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCEP89_HUMAN
AccessioniPrimary (citable) accession number: Q96ST8
Secondary accession number(s): B9EGA6, Q8N5J8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 110 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.